Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.Y221C
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TPM1

NM_001018005.2:p.Y221C

Associated Papers

Clinical impact of the TPM1 p.Tyr221Cys variant causing hypertrophic cardiomyopathy.

Marinelli A et al.

Genes & Diseases, 2025

Childhood-onset hypertrophic cardiomyopathy caused by thin-filament sarcomeric variants.

Norrish G et al.

Journal of Medical Genetics, 2024

38296631 (PubMed )
Supplement: jmg-2023-109684supp001.pdf

Lifelong Clinical Impact of the Presence of Sarcomere Gene Mutation in Japanese Patients With Hypertrophic Cardiomyopathy.

Nakashima Y et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."